ClinVar

NM_001283009.2(RTEL1):c.750C>T (p.Asp250=)

Genes:

RTEL1-TNFRSF6B:RTEL1-TNFRSF6B readthrough (NMD candidate) [Gene - HGNC]
RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63672606 (on Assembly GRCh38)
• Chr20: 62303959 (on Assembly GRCh37)

Preferred name:

NM_001283009.2(RTEL1):c.750C>T (p.Asp250=)

HGVS:

• NC_000020.11:g.63672606C>T
• NG_033901.1:g.19797C>T
• NM_001283009.2:c.750C>TMANE SELECT
• NM_001283010.1:c.81C>T
• NM_016434.4:c.750C>T
• NM_032957.5:c.822C>T
• NP_001269938.1:p.Asp250=
• NP_001269939.1:p.Asp27=
• NP_057518.1:p.Asp250=
• NP_116575.3:p.Asp274=
• LRG_1149t1:c.822C>T
• LRG_1149t2:c.750C>T
• LRG_1149t3:c.750C>T
• LRG_1149:g.19797C>T
• LRG_1149p1:p.Asp274=
• LRG_1149p2:p.Asp250=
• LRG_1149p3:p.Asp250=
• NC_000020.10:g.62303959C>T
• NR_037882.1:n.1577C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs777405867

NCBI 1000 Genomes Browser:

rs777405867

Molecular consequence:

• NR_037882.1:n.1577C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001283009.2:c.750C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001283010.1:c.81C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016434.4:c.750C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032957.5:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]